Incidental Mutation 'R0900:Tktl2'
ID |
83839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.487)
|
Stock # |
R0900 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 66964999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 186
(V186M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002025]
[ENSMUST00000183187]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002025
AA Change: V186M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: V186M
Domain | Start | End | E-Value | Type |
Pfam:DXP_synthase_N
|
2 |
195 |
2.4e-9 |
PFAM |
Pfam:Transketolase_N
|
16 |
281 |
4.6e-50 |
PFAM |
Pfam:TPP_enzyme_C
|
108 |
250 |
5.9e-8 |
PFAM |
Pfam:E1_dh
|
111 |
249 |
2.9e-13 |
PFAM |
Transket_pyr
|
320 |
484 |
3.74e-51 |
SMART |
Pfam:Transketolase_C
|
495 |
617 |
1.4e-34 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183187
AA Change: V186M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: V186M
Domain | Start | End | E-Value | Type |
Pfam:DXP_synthase_N
|
2 |
197 |
8.2e-9 |
PFAM |
Pfam:Transketolase_N
|
16 |
280 |
2.2e-86 |
PFAM |
Pfam:TPP_enzyme_C
|
108 |
250 |
5.9e-8 |
PFAM |
Pfam:E1_dh
|
110 |
251 |
2.1e-14 |
PFAM |
Transket_pyr
|
320 |
484 |
3.74e-51 |
SMART |
Pfam:Transketolase_C
|
495 |
617 |
3.4e-30 |
PFAM |
|
Meta Mutation Damage Score |
0.1037 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,904,359 (GRCm39) |
F144I |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,719,496 (GRCm39) |
R468G |
possibly damaging |
Het |
Arsk |
C |
A |
13: 76,246,576 (GRCm39) |
|
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,833,039 (GRCm39) |
H912R |
probably damaging |
Het |
Ccr1 |
A |
T |
9: 123,764,371 (GRCm39) |
V53D |
possibly damaging |
Het |
Cfap91 |
G |
A |
16: 38,156,764 (GRCm39) |
S47L |
possibly damaging |
Het |
Clec2d |
G |
A |
6: 129,160,076 (GRCm39) |
R30K |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,591,535 (GRCm39) |
V975A |
possibly damaging |
Het |
Col4a1 |
AGCCAGGGATGCCAGG |
AGCCAGG |
8: 11,268,014 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
C |
17: 46,969,263 (GRCm39) |
S907P |
probably benign |
Het |
Depdc1b |
A |
T |
13: 108,498,794 (GRCm39) |
H159L |
possibly damaging |
Het |
Dhx57 |
T |
C |
17: 80,583,011 (GRCm39) |
H198R |
probably benign |
Het |
Dpp7 |
T |
C |
2: 25,246,311 (GRCm39) |
D10G |
probably damaging |
Het |
Esp18 |
G |
A |
17: 39,719,023 (GRCm39) |
M7I |
possibly damaging |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fam167a |
A |
G |
14: 63,689,828 (GRCm39) |
T42A |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,605,827 (GRCm39) |
R553G |
probably benign |
Het |
Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
Jag1 |
CTTT |
CTTTT |
2: 136,932,802 (GRCm39) |
|
probably null |
Het |
Limk2 |
A |
G |
11: 3,300,731 (GRCm39) |
F204L |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,124,624 (GRCm39) |
D361G |
probably damaging |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,711,252 (GRCm39) |
F21Y |
probably benign |
Het |
Pcna-ps2 |
T |
A |
19: 9,261,487 (GRCm39) |
Y249N |
probably damaging |
Het |
Prkce |
A |
T |
17: 86,932,886 (GRCm39) |
D622V |
probably damaging |
Het |
Prss47 |
A |
C |
13: 65,197,208 (GRCm39) |
V176G |
possibly damaging |
Het |
Prss55 |
C |
T |
14: 64,314,627 (GRCm39) |
R181H |
probably benign |
Het |
Prtg |
A |
T |
9: 72,752,225 (GRCm39) |
I204L |
probably benign |
Het |
Pura |
T |
C |
18: 36,420,720 (GRCm39) |
I169T |
probably damaging |
Het |
Rttn |
C |
T |
18: 89,119,815 (GRCm39) |
T1750I |
probably benign |
Het |
Slc25a26 |
T |
A |
6: 94,484,639 (GRCm39) |
S60T |
probably damaging |
Het |
Tmem94 |
T |
A |
11: 115,682,804 (GRCm39) |
C614S |
probably benign |
Het |
Trim12a |
T |
C |
7: 103,953,469 (GRCm39) |
N214S |
probably benign |
Het |
Ube3c |
T |
C |
5: 29,806,344 (GRCm39) |
Y329H |
probably benign |
Het |
Ubxn2a |
T |
C |
12: 4,952,257 (GRCm39) |
K2E |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,710,757 (GRCm39) |
E2675D |
probably benign |
Het |
Usf3 |
C |
T |
16: 44,036,321 (GRCm39) |
P267L |
probably benign |
Het |
Vmn1r129 |
A |
T |
7: 21,094,635 (GRCm39) |
Y194* |
probably null |
Het |
Zfp750 |
T |
C |
11: 121,403,807 (GRCm39) |
E356G |
probably benign |
Het |
|
Other mutations in Tktl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Tktl2
|
APN |
8 |
66,965,548 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02444:Tktl2
|
APN |
8 |
66,966,013 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02798:Tktl2
|
APN |
8 |
66,965,963 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02938:Tktl2
|
APN |
8 |
66,964,982 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03095:Tktl2
|
APN |
8 |
66,964,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R0530:Tktl2
|
UTSW |
8 |
66,965,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R0899:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1080:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1419:Tktl2
|
UTSW |
8 |
66,965,690 (GRCm39) |
missense |
probably damaging |
0.97 |
R1609:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.04 |
R1717:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1718:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1719:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1848:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1933:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1934:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R2134:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R2135:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R2314:Tktl2
|
UTSW |
8 |
66,965,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.04 |
R2511:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.04 |
R2965:Tktl2
|
UTSW |
8 |
66,964,715 (GRCm39) |
missense |
probably benign |
0.01 |
R3084:Tktl2
|
UTSW |
8 |
66,965,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3085:Tktl2
|
UTSW |
8 |
66,965,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3121:Tktl2
|
UTSW |
8 |
66,964,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R3499:Tktl2
|
UTSW |
8 |
66,965,897 (GRCm39) |
missense |
probably damaging |
0.97 |
R4227:Tktl2
|
UTSW |
8 |
66,966,351 (GRCm39) |
splice site |
probably null |
|
R4284:Tktl2
|
UTSW |
8 |
66,965,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Tktl2
|
UTSW |
8 |
66,964,664 (GRCm39) |
missense |
probably damaging |
0.96 |
R5478:Tktl2
|
UTSW |
8 |
66,966,050 (GRCm39) |
missense |
probably damaging |
0.99 |
R5801:Tktl2
|
UTSW |
8 |
66,966,299 (GRCm39) |
missense |
probably benign |
0.00 |
R6656:Tktl2
|
UTSW |
8 |
66,965,381 (GRCm39) |
missense |
probably benign |
|
R6864:Tktl2
|
UTSW |
8 |
66,964,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Tktl2
|
UTSW |
8 |
66,965,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R7168:Tktl2
|
UTSW |
8 |
66,965,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Tktl2
|
UTSW |
8 |
66,965,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7617:Tktl2
|
UTSW |
8 |
66,965,651 (GRCm39) |
missense |
probably benign |
0.07 |
R7687:Tktl2
|
UTSW |
8 |
66,965,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R8825:Tktl2
|
UTSW |
8 |
66,966,319 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9155:Tktl2
|
UTSW |
8 |
66,965,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9176:Tktl2
|
UTSW |
8 |
66,964,664 (GRCm39) |
missense |
probably damaging |
0.96 |
R9352:Tktl2
|
UTSW |
8 |
66,965,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9514:Tktl2
|
UTSW |
8 |
66,965,840 (GRCm39) |
missense |
probably damaging |
0.98 |
R9633:Tktl2
|
UTSW |
8 |
66,965,813 (GRCm39) |
missense |
probably benign |
0.25 |
RF006:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAATGGCTTACACCGGCAAATAC -3'
(R):5'- CTGATCCTGGGCGAGTCTTCAATG -3'
Sequencing Primer
(F):5'- TACTTTGACAAGGCCAGCTAC -3'
(R):5'- GGAATACCTCTACCCTTGAAGGTC -3'
|
Posted On |
2013-11-08 |